ClinVar Miner

Submissions for variant NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)

gnomAD frequency: 0.00001  dbSNP: rs779331797
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409533 SCV000486785 likely pathogenic GRACILE syndrome 2016-08-14 criteria provided, single submitter clinical testing
Invitae RCV001050600 SCV001214715 pathogenic not provided 2023-08-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 371250). This premature translational stop signal has been observed in individual(s) with Björnstad syndrome (PMID: 25895478). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs779331797, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg186*) in the BCS1L gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BCS1L are known to be pathogenic (PMID: 12215968, 17314340, 19162478, 19508421, 22277166, 25895478).
Baylor Genetics RCV003475966 SCV004210808 pathogenic Pili torti-deafness syndrome 2023-06-08 criteria provided, single submitter clinical testing

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